Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.

ABSTRACT:

Background

Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders.

Objectives

The goal was to describe the clinical phenotype and disturbance in VLCFA metabolism associated with variants in the ELOV1 gene.

Methods

The following methods were employed: Exome sequencing, clinical phenotyping, magnetic resonance imaging (MRI), metabolomics, liquid chromatography-tandem mass spectrometry, fatty acid elongation assay.

Results

We, here, describe seven patients with autosomal recessive variants in ELOVL1. Common clinical

SUBMITTER: Wong KM 

PROVIDER: S-EPMC12485584 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature